1. 8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single‐center experience and literature revision. Issue 3 (13th December 2021) Authors: Cicenia, Marianna; Alesi, Viola; Orlando, Valeria; Magliozzi, Monia; Di Tommaso, Silvia; Iodice, Francesca G.; Pompei, Emanuela; Toscano, Alessandra; Digilio, Maria C.; Drago, Fabrizio; Novelli, Antonio; Baban, Anwar Journal: American journal of medical genetics Issue: Volume 188:Issue 3(2022) Page Start: 883 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries. (5th February 2018) Authors: Sabbaghian, Nelly; Digilio, Maria C.; Blue, Gillian M.; Revil, Timothée; Winlaw, David S.; Foulkes, William D. Journal: Congenital heart disease Issue: Volume 13:Number 3(2018) Page Start: 401 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study. Issue 10 (18th June 2020) Authors: Calcagni, Giulio; Gagliostro, Giulia; Limongelli, Giuseppe; Unolt, Marta; De Luca, Enrica; Digilio, Maria C.; Baban, Anwar; Albanese, Sonia B.; Ferrero, Giovanni B.; Baldassarre, Giuseppina; Agnoletti, Gabriella; Banaudi, Elena; Marek, Jan; Kaski, Juan P.; Tuo, Giulia; Marasini, Maurizio; Cairell... Other Names: Watanabe Michiko guestEditor. Journal: Birth defects research Issue: Volume 112:Issue 10(2020) Page Start: 725 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects. Issue 5 (1st April 2021) Authors: Beecroft, Sarah J.; Ayala, Marcos; McGillivray, George; Nanda, Vikas; Agolini, Emanuele; Novelli, Antonio; Digilio, Maria C.; Dotta, Andrea; Carrozzo, Rosalba; Clayton, Joshua; Gaffney, Lydia; McLean, Catriona A.; Ng, Jessica; Laing, Nigel G.; Matteson, Paul; Millonig, James; Ravenscroft, Gianina Journal: Human mutation Issue: Volume 42:Issue 5(2021) Page Start: 506 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cardiovascular disease in Down syndrome. Issue 5 (October 2018) Authors: Versacci, Paolo; Di Carlo, Duccio; Digilio, Maria C.; Marino, Bruno Journal: Current opinion in pediatrics Issue: Volume 30:Issue 5(2018:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019) Authors: Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Comparison of Adaptive Functioning in Children with Williams Beuren Syndrome and Autism Spectrum Disorder: A Cross‐Syndrome Study. Issue 4 (11th December 2020) Authors: Alfieri, Paolo; Scibelli, Francesco; Digilio, Maria C.; Novello, Roberta L.; Caciolo, Cristina; Valeri, Giovanni; Vicari, Stefano Journal: Autism research Issue: Volume 14:Issue 4(2021) Page Start: 748 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Cover Image, Volume 38, Issue 4. Issue 4 (April 2017) Authors: Pannone, Luca; Bocchinfuso, Gianfranco; Flex, Elisabetta; Rossi, Cesare; Baldassarre, Giuseppina; Lissewski, Christina; Pantaleoni, Francesca; Consoli, Federica; Lepri, Francesca; Magliozzi, Monia; Anselmi, Massimiliano; Delle Vigne, Silvia; Sorge, Giovanni; Karaer, Kadri; Cuturilo, Goran; Sartor... Journal: Human mutation Issue: Volume 38:Issue 4(2017) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Defining language disorders in children and adolescents with Noonan Syndrome. Issue 4 (14th February 2020) Authors: Lazzaro, Giulia; Caciolo, Cristina; Menghini, Deny; Cumbo, Francesca; Digilio, Maria C.; Capolino, Rossella; Zampino, Giuseppe; Tartaglia, Marco; Vicari, Stefano; Alfieri, Paolo Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 4(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Expanding the clinical spectrum associated with PACS2 mutations. Issue 4 (28th February 2019) Authors: Dentici, Maria L.; Barresi, Sabina; Niceta, Marcello; Ciolfi, Andrea; Trivisano, Marina; Bartuli, Andrea; Digilio, Maria C.; Specchio, Nicola; Dallapiccola, Bruno; Tartaglia, Marco Journal: Clinical genetics Issue: Volume 95:Issue 4(2019) Page Start: 525 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗